Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

Rüstem Yilmaz, Katalin Szakszon*, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

The “blepharophimosis-mental retardation” syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge. and anteverted nares. Here we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.

Original languageEnglish
Pages (from-to)187-193
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number1
DOIs
StatePublished - Jan 2018

Keywords

  • Kaufman oculocerebrofacial syndrome
  • UBE3B
  • blepharophimosis
  • intellectual disability

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